Detection of a common mutation in the RS
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Yu, Hongwei; Tint, G. Stephen; Salen, Gerald; Patel, Shailendra B.
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Article
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2000
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John Wiley and Sons
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English
⚖ 24 KB
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The RSH or Smith-Lemli-Opitz syndrome (SLOS) is a relatively common autosomal recessive disorder of cholesterol biosynthesis resulting from a deficiency of the enzyme 7-dehydrocholesterol ⌬7-reductase (7-DHCR). Mutations in 7-DHCR gene cause SLOS. Among these, a G → C transversion in the splice acce